Inspired by: George Church
Human genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of human genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dimensional structural configuration. Wikipedia (CC BY-SA 3.0)
2023 Articles
27 147 articles
A diverse and inclusive human pangenome
- Michael Attwaters, Michael Attwaters, Michael Attwaters, Michael Attwaters
- Nat Rev Genet, 10.1038/s41576-023-00634-5
Functional screens refine height GWAS loci
- Cheryl L Ackert-Bicknell, Cheryl L Ackert-Bicknell, Cheryl L Ackert-Bicknell
- None, 10.1016/j.xgen.2023.100325
Response to Li and Hopper
- Nina Mars, Joni V Lindbohm, Pietro Della Briotta Parolo, …, Jaakko Kaprio, Aarno Palotie, Samuli Ripatti
- Am J Hum Genet, 10.1016/j.ajhg.2023.05.016
Human populations are not biologically and genetically discrete
- Martin S Fischer, Johannes Krause, Martin S Fischer, …, Johannes Krause, Martin S Fischer, Johannes Krause
- Br J Psychol, 10.1111/bjop.12635
Advancing artificial intelligence to help feed the world
- Ben J Hayes, Chensong Chen, Owen Powell, …, Kira Villiers, Kathryn E Kemper, Lee T Hickey
- Nat Biotechnol, 10.1038/s41587-023-01898-2
Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease
- Yiyi Zhang, Jacqueline S Dron, Brandon K Bellows, …, Dhruv S Kazi, Sarah D de Ferranti, Andrew E Moran
- Circulation, 10.1161/circulationaha.123.064168
Characterizing the polygenic architecture of complex traits in populations of East Asian and European descent
- Antonella De Lillo, Frank R Wendt, Gita A Pathak, …, Frank R Wendt, Gita A Pathak, Renato Polimanti
- Hum Genomics, 10.1186/s40246-023-00514-3
The human pangenome reference: the beginning of a new era for genomics
- Bo Wang, Ningxin Dang, Xiaofei Yang, …, Xiaofei Yang, Shuhua Xu, Kai Ye
- Sci Bull (Beijing), 10.1016/j.scib.2023.06.014
Method of the year: long-read sequencing
- Vivien Marx, Vivien Marx, Vivien Marx
- Nat Methods, 10.1038/s41592-022-01730-w
2022 Articles
2 748 articles
The NBDC-DDBJ imputation server facilitates the use of controlled access reference panel datasets in Japan
- Tsuyoshi Hachiya, Manabu Ishii, Yosuke Kawai, …, Takatomo Fujisawa, Katsushi Tokunaga, Toshihisa Takagi
- None, 10.1038/s41439-022-00225-6
A comparison between similarity matrices for principal component analysis to assess population stratification in sequenced genetic data sets
- Sanghun Lee, Georg Hahn, Julian Hecker, …, Rudolph E Tanzi, Christoph Lange, Dmitry Prokopenko
- Brief Bioinform, 10.1093/bib/bbac611
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies
- Xihao Li, Corbin Quick, Hufeng Zhou, …, Gina M Peloso, Zilin Li, Xihong Lin
- Nat Genet, 10.1038/s41588-022-01225-6
Analyzing the Korean reference genome with meta-imputation increased the imputation accuracy and spectrum of rare variants in the Korean population
- Mi Yeong Hwang, Nak-Hyeon Choi, Hong Hee Won, …, Hong Hee Won, Bong-Jo Kim, Young Jin Kim
- None, 10.3389/fgene.2022.1008646
Comparison of calling pipelines for whole genome sequencing: an empirical study demonstrating the importance of mapping and alignment
- Raphael O Betschart, Alexandre Thiéry, Domingo Aguilera-Garcia, …, Tanja Zeller, Stefan Blankenberg, Andreas Ziegler
- Sci Rep, 10.1038/s41598-022-26181-3
Truvari: refined structural variant comparison preserves allelic diversity
- Vipin K Menon, Richard A Gibbs, Ginger A Metcalf, …, Richard A Gibbs, Ginger A Metcalf, Fritz J Sedlazeck
- Genome Biol, 10.1186/s13059-022-02840-6
SVDSS: structural variation discovery in hard-to-call genomic regions using sample-specific strings from accurate long reads
- Luca Denti, Parsoa Khorsand, Luca Denti, …, Paola Bonizzoni, Fereydoun Hormozdiari, Rayan Chikhi
- Nat Methods, 10.1038/s41592-022-01674-1
Correlations between complex human phenotypes vary by genetic background, gender, and environment
- Michael Elgart, Matthew O Goodman, Carmen Isasi, …, Robert C Kaplan, Susan Redline, Tamar Sofer
- Cell Rep Med, 10.1016/j.xcrm.2022.100844
Comprehensive 100-bp resolution genome-wide epigenomic profiling data for the hg38 human reference genome
- Ronnie Y Li, Yanting Huang, Zhiyue Zhao, …, Yanting Huang, Zhiyue Zhao, Zhaohui S Qin
- None, 10.1016/j.dib.2022.108827
Enhancing childhood cancer targetability
- Ammar S Naqvi, Ammar S Naqvi, Ammar S Naqvi, …, Jo Lynne Rokita, Ammar S Naqvi, Jo Lynne Rokita
- Nat Cancer, 10.1038/s43018-022-00472-0